Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.H2330H
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FLG

NM_002016.2:p.H2330H

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › iPSC-MCs_tumor_1

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.

Kim M et al.

Plos One, 2017

29281699 (PubMed )
Supplement: pone.0190077.s002.xlsx › Sheet1

An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.

Park KY et al.

Journal of Korean Medical Science, 2016

27366014 (PubMed )
Supplement: jkms-31-1136-s001.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."